ClinVar Miner

Submissions for variant NM_001346249.2(RALGAPA1):c.42C>T (p.Thr14=)

gnomAD frequency: 0.00209  dbSNP: rs148182075
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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 RCV000890578 SCV001034333 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890578 SCV004010277 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing RALGAPA1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000890578 SCV005290462 benign not provided criteria provided, single submitter not provided

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