ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)

gnomAD frequency: 0.00123  dbSNP: rs144657822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318767 SCV000335737 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000318767 SCV001122102 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing

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