ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)

gnomAD frequency: 0.00044  dbSNP: rs144476508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177794 SCV000229727 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing
Invitae RCV000177794 SCV001041450 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000177794 SCV004139126 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SRCAP: BP4, BS1

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