ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=)

gnomAD frequency: 0.00015  dbSNP: rs147983048
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732638 SCV000860613 likely benign not specified 2018-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061012 SCV002406960 benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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