ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.740+356C>T (rs397515337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000000077 SCV000693908 pathogenic Bardet-Biedl syndrome 16 2017-06-26 criteria provided, single submitter research PVS1: This is an intronic variant in most transcripts but there is functional evidence in the literature that it results in altered splicing and significantly reduced protein levels (PMID: 20835237). It is annotated as a missense here but that only applies to 1 transcript. PP1 it cosegregates in 1 large Gypsy family with 5 affected individuals in 2 sibships (PMID: 22190896). PM2 rare in population databases (AC = 2 in gnomAD).
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000760978 SCV000890883 pathogenic Senior-Loken syndrome 7 2018-06-01 criteria provided, single submitter clinical testing
OMIM RCV000000077 SCV000020220 pathogenic Bardet-Biedl syndrome 16 2011-09-01 no assertion criteria provided literature only

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