ClinVar for MedGen (Select 338164) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16874911.	NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn) GRCh37: Chr22:33255182-33255183 GRCh38: Chr22:32859195-32859196	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 9319652.	NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys) GRCh37: Chr22:33255237 GRCh38: Chr22:32859250	SYN3, TIMP3	S170C	Sorsby fundus dystrophy	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 9036043.	NM_003490.4(SYN3):c.711+63401G>A GRCh37: Chr22:33197500 GRCh38: Chr22:32801514	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9036034.	NM_003490.4(SYN3):c.711+63470T>G GRCh37: Chr22:33197431 GRCh38: Chr22:32801445	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9036025.	NM_003490.4(SYN3):c.711+63673C>T GRCh37: Chr22:33197228 GRCh38: Chr22:32801242	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 9027596.	NM_000362.5(TIMP3):c.*3521C>T GRCh37: Chr22:33258885 GRCh38: Chr22:32862898	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 9026907.	NM_000362.5(TIMP3):c.*2152G>T GRCh37: Chr22:33257516 GRCh38: Chr22:32861529	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9026308.	NM_000362.5(TIMP3):c.*690C>G GRCh37: Chr22:33256054 GRCh38: Chr22:32860067	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9026299.	NM_000362.5(TIMP3):c.*541T>C GRCh37: Chr22:33255905 GRCh38: Chr22:32859918	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90185010.	NM_000362.5(TIMP3):c.*3246G>A GRCh37: Chr22:33258610 GRCh38: Chr22:32862623	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90184911.	NM_000362.5(TIMP3):c.*3221A>G GRCh37: Chr22:33258585 GRCh38: Chr22:32862598	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90178312.	NM_000362.5(TIMP3):c.*2014C>A GRCh37: Chr22:33257378 GRCh38: Chr22:32861391	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90178213.	NM_000362.5(TIMP3):c.*1957A>G GRCh37: Chr22:33257321 GRCh38: Chr22:32861334	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90178114.	NM_000362.5(TIMP3):c.*1935G>A GRCh37: Chr22:33257299 GRCh38: Chr22:32861312	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90178015.	NM_000362.5(TIMP3):c.*1929A>G GRCh37: Chr22:33257293 GRCh38: Chr22:32861306	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90177916.	NM_000362.5(TIMP3):c.*1841C>A GRCh37: Chr22:33257205 GRCh38: Chr22:32861218	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90172117.	NM_000362.5(TIMP3):c.*320G>T GRCh37: Chr22:33255684 GRCh38: Chr22:32859697	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90172018.	NM_000362.5(TIMP3):c.*232T>C GRCh37: Chr22:33255596 GRCh38: Chr22:32859609	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90171919.	NM_000362.5(TIMP3):c.615C>T (p.Ile205=) GRCh37: Chr22:33255343 GRCh38: Chr22:32859356	SYN3, TIMP3		Sorsby fundus dystrophy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90130220.	NM_000362.5(TIMP3):c.*2943C>T GRCh37: Chr22:33258307 GRCh38: Chr22:32862320	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90130121.	NM_000362.5(TIMP3):c.*2763C>T GRCh37: Chr22:33258127 GRCh38: Chr22:32862140	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90130022.	NM_000362.5(TIMP3):c.*2698A>G GRCh37: Chr22:33258062 GRCh38: Chr22:32862075	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90123823.	NM_000362.5(TIMP3):c.*1802A>G GRCh37: Chr22:33257166 GRCh38: Chr22:32861179	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90123724.	NM_000362.5(TIMP3):c.*1504G>A GRCh37: Chr22:33256868 GRCh38: Chr22:32860881	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90116925.	NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu) GRCh37: Chr22:33245488 GRCh38: Chr22:32849501	SYN3, TIMP3	F57L	not provided, Sorsby fundus dystrophy	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90014126.	NM_000362.5(TIMP3):c.*2424G>A GRCh37: Chr22:33257788 GRCh38: Chr22:32861801	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90007627.	NM_000362.5(TIMP3):c.*1188C>T GRCh37: Chr22:33256552 GRCh38: Chr22:32860565	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90007528.	NM_000362.5(TIMP3):c.*1115C>T GRCh37: Chr22:33256479 GRCh38: Chr22:32860492	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90007429.	NM_000362.5(TIMP3):c.*854G>A GRCh37: Chr22:33256218 GRCh38: Chr22:32860231	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90000630.	NM_000362.5(TIMP3):c.-274G>C GRCh37: Chr22:33197714 GRCh38: Chr22:32801728	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90000531.	NM_000362.5(TIMP3):c.-284G>C GRCh37: Chr22:33197704 GRCh38: Chr22:32801718	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34140932.	NM_000362.5(TIMP3):c.*3482C>T GRCh37: Chr22:33258846 GRCh38: Chr22:32862859	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Nov 2, 2017)	criteria provided, single submitter
Select item 34140833.	NM_000362.5(TIMP3):c.*3413C>T GRCh37: Chr22:33258777 GRCh38: Chr22:32862790	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34140634.	NM_000362.5(TIMP3):c.*3282C>T GRCh37: Chr22:33258646 GRCh38: Chr22:32862659	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34140535.	NM_000362.5(TIMP3):c.*3233T>A GRCh37: Chr22:33258597 GRCh38: Chr22:32862610	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34140436.	NM_000362.5(TIMP3):c.*3157T>C GRCh37: Chr22:33258521 GRCh38: Chr22:32862534	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34140337.	NM_000362.5(TIMP3):c.*3127T>C GRCh37: Chr22:33258491 GRCh38: Chr22:32862504	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34140238.	NM_000362.5(TIMP3):c.*3084T>C GRCh37: Chr22:33258448 GRCh38: Chr22:32862461	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34140139.	NM_000362.5(TIMP3):c.*3028G>A GRCh37: Chr22:33258392 GRCh38: Chr22:32862405	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34140040.	NM_000362.5(TIMP3):c.*3010G>A GRCh37: Chr22:33258374 GRCh38: Chr22:32862387	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34139941.	NM_000362.5(TIMP3):c.*2924T>C GRCh37: Chr22:33258288 GRCh38: Chr22:32862301	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34139842.	NM_000362.5(TIMP3):c.*2853G>A GRCh37: Chr22:33258217 GRCh38: Chr22:32862230	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34139743.	NM_000362.5(TIMP3):c.*2844C>T GRCh37: Chr22:33258208 GRCh38: Chr22:32862221	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34139644.	NM_000362.5(TIMP3):c.*2820G>A GRCh37: Chr22:33258184 GRCh38: Chr22:32862197	SYN3, TIMP3		Sorsby fundus dystrophy	Likely benign (Apr 28, 2017)	criteria provided, single submitter
Select item 34139545.	NM_000362.5(TIMP3):c.*2817T>C GRCh37: Chr22:33258181 GRCh38: Chr22:32862194	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34139446.	NM_000362.5(TIMP3):c.*2686C>T GRCh37: Chr22:33258050 GRCh38: Chr22:32862063	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34139347.	NM_000362.5(TIMP3):c.*2668T>C GRCh37: Chr22:33258032 GRCh38: Chr22:32862045	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34139248.	NM_000362.5(TIMP3):c.*2651T>C GRCh37: Chr22:33258015 GRCh38: Chr22:32862028	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34139149.	NM_000362.5(TIMP3):c.*2566C>T GRCh37: Chr22:33257930 GRCh38: Chr22:32861943	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34139050.	NM_000362.5(TIMP3):c.*2544G>A GRCh37: Chr22:33257908 GRCh38: Chr22:32861921	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34138951.	NM_000362.5(TIMP3):c.*2519T>G GRCh37: Chr22:33257883 GRCh38: Chr22:32861896	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34138852.	NM_000362.5(TIMP3):c.*2413G>T GRCh37: Chr22:33257777 GRCh38: Chr22:32861790	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34138753.	NM_000362.5(TIMP3):c.*2356C>T GRCh37: Chr22:33257720 GRCh38: Chr22:32861733	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34138654.	NM_000362.5(TIMP3):c.*2314C>T GRCh37: Chr22:33257678 GRCh38: Chr22:32861691	TIMP3, SYN3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34138555.	NM_000362.5(TIMP3):c.*2313C>A GRCh37: Chr22:33257677 GRCh38: Chr22:32861690	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34138456.	NM_000362.5(TIMP3):c.*2280T>C GRCh37: Chr22:33257644 GRCh38: Chr22:32861657	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34138357.	NM_000362.5(TIMP3):c.*2188C>T GRCh37: Chr22:33257552 GRCh38: Chr22:32861565	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34138258.	NM_000362.5(TIMP3):c.*2122C>G GRCh37: Chr22:33257486 GRCh38: Chr22:32861499	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34138159.	NM_000362.5(TIMP3):c.*2103C>T GRCh37: Chr22:33257467 GRCh38: Chr22:32861480	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34138060.	NM_000362.5(TIMP3):c.*2033G>T GRCh37: Chr22:33257397 GRCh38: Chr22:32861410	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34137761.	NM_000362.5(TIMP3):c.*1958T>C GRCh37: Chr22:33257322 GRCh38: Chr22:32861335	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34137662.	NM_000362.5(TIMP3):c.*1900C>T GRCh37: Chr22:33257264 GRCh38: Chr22:32861277	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34137363.	NM_000362.5(TIMP3):c.*1796G>A GRCh37: Chr22:33257160 GRCh38: Chr22:32861173	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34137264.	NM_000362.5(TIMP3):c.*1792A>G GRCh37: Chr22:33257156 GRCh38: Chr22:32861169	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34137165.	NM_000362.5(TIMP3):c.*1783A>G GRCh37: Chr22:33257147 GRCh38: Chr22:32861160	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34137066.	NM_000362.5(TIMP3):c.*1717A>G GRCh37: Chr22:33257081 GRCh38: Chr22:32861094	TIMP3, SYN3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34136867.	NM_000362.5(TIMP3):c.*1681T>C GRCh37: Chr22:33257045 GRCh38: Chr22:32861058	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34136368.	NM_000362.5(TIMP3):c.*1495G>A GRCh37: Chr22:33256859 GRCh38: Chr22:32860872	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34136269.	NM_000362.5(TIMP3):c.*1297T>C GRCh37: Chr22:33256661 GRCh38: Chr22:32860674	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34136170.	NM_000362.5(TIMP3):c.*1242G>A GRCh37: Chr22:33256606 GRCh38: Chr22:32860619	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34136071.	NM_000362.5(TIMP3):c.*1179T>C GRCh37: Chr22:33256543 GRCh38: Chr22:32860556	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135972.	NM_000362.5(TIMP3):c.*990G>A GRCh37: Chr22:33256354 GRCh38: Chr22:32860367	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135873.	NM_000362.5(TIMP3):c.*930T>C GRCh37: Chr22:33256294 GRCh38: Chr22:32860307	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135774.	NM_000362.5(TIMP3):c.*795A>G GRCh37: Chr22:33256159 GRCh38: Chr22:32860172	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135675.	NM_000362.5(TIMP3):c.*615C>T GRCh37: Chr22:33255979 GRCh38: Chr22:32859992	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34135576.	NM_000362.5(TIMP3):c.*541T>A GRCh37: Chr22:33255905 GRCh38: Chr22:32859918	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135477.	NM_000362.5(TIMP3):c.*538G>T GRCh37: Chr22:33255902 GRCh38: Chr22:32859915	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34135378.	NM_000362.5(TIMP3):c.*529G>A GRCh37: Chr22:33255893 GRCh38: Chr22:32859906	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34135279.	NM_000362.5(TIMP3):c.*506G>A GRCh37: Chr22:33255870 GRCh38: Chr22:32859883	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34135080.	NM_000362.5(TIMP3):c.*105C>A GRCh37: Chr22:33255469 GRCh38: Chr22:32859482	TIMP3, SYN3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34134981.	NM_000362.5(TIMP3):c.*87T>C GRCh37: Chr22:33255451 GRCh38: Chr22:32859464	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34134882.	NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) GRCh37: Chr22:33255315 GRCh38: Chr22:32859328	SYN3, TIMP3	R196Q	Sorsby fundus dystrophy, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 34134783.	NM_000362.5(TIMP3):c.516C>T (p.Phe172=) GRCh37: Chr22:33255244 GRCh38: Chr22:32859257	SYN3, TIMP3		Sorsby fundus dystrophy, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 34134684.	NM_000362.5(TIMP3):c.439-12A>T GRCh37: Chr22:33255155 GRCh38: Chr22:32859168	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34134585.	NM_000362.5(TIMP3):c.439-12A>G GRCh37: Chr22:33255155 GRCh38: Chr22:32859168	SYN3, TIMP3		Sorsby fundus dystrophy, not provided	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34134486.	NM_000362.5(TIMP3):c.289G>A (p.Val97Ile) GRCh37: Chr22:33253320 GRCh38: Chr22:32857333	SYN3, TIMP3	V97I	Sorsby fundus dystrophy, not provided	Benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34134387.	NM_000362.5(TIMP3):c.261C>T (p.Ser87=) GRCh37: Chr22:33253292 GRCh38: Chr22:32857305	SYN3, TIMP3		Sorsby fundus dystrophy, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34134288.	NM_000362.5(TIMP3):c.121+4A>G GRCh37: Chr22:33198112 GRCh38: Chr22:32802126	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34134189.	NM_000362.5(TIMP3):c.-105G>C GRCh37: Chr22:33197883 GRCh38: Chr22:32801897	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34134090.	NM_000362.5(TIMP3):c.-117G>A GRCh37: Chr22:33197871 GRCh38: Chr22:32801885	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34133991.	NM_000362.5(TIMP3):c.-270G>T GRCh37: Chr22:33197718 GRCh38: Chr22:32801732	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34133892.	NM_003490.4(SYN3):c.711+63217C>T GRCh37: Chr22:33197684 GRCh38: Chr22:32801698	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34133793.	NM_003490.4(SYN3):c.711+63243G>A GRCh37: Chr22:33197658 GRCh38: Chr22:32801672	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34133694.	NM_003490.4(SYN3):c.711+63303G>T GRCh37: Chr22:33197598 GRCh38: Chr22:32801612	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34133595.	NM_003490.4(SYN3):c.711+63320C>T GRCh37: Chr22:33197581 GRCh38: Chr22:32801595	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34133496.	NM_003490.4(SYN3):c.711+63346G>A GRCh37: Chr22:33197555 GRCh38: Chr22:32801569	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34133397.	NM_003490.4(SYN3):c.711+63384G>T GRCh37: Chr22:33197517 GRCh38: Chr22:32801531	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34133298.	NM_003490.4(SYN3):c.711+63446C>T GRCh37: Chr22:33197455 GRCh38: Chr22:32801469	SYN3, TIMP3		Sorsby fundus dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34133199.	NM_003490.4(SYN3):c.711+63597A>G GRCh37: Chr22:33197304 GRCh38: Chr22:32801318	SYN3, TIMP3		Sorsby fundus dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 341330100.	NM_003490.4(SYN3):c.711+63811A>G GRCh37: Chr22:33197090 GRCh38: Chr22:32801104	SYN3, TIMP3		Sorsby fundus dystrophy	Likely benign (Apr 27, 2017)	criteria provided, single submitter

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