ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) (rs137853319)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621734 SCV000739075 benign Cardiovascular phenotype 2017-12-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000869767 SCV001011222 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000012541 SCV000032775 pathogenic FG syndrome 2 2007-08-15 no assertion criteria provided literature only

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