ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.801A>G (p.Glu267=)

gnomAD frequency: 0.00001  dbSNP: rs759776721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002592327 SCV003500346 likely benign not provided 2023-03-19 criteria provided, single submitter clinical testing

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