ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)

gnomAD frequency: 0.00009  dbSNP: rs572892329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910152 SCV001054997 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000910152 SCV005257267 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275734 SCV001461163 uncertain significance Pontocerebellar hypoplasia type 2D 2020-01-24 no assertion criteria provided clinical testing

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