ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.162C>T (p.Asn54=)

gnomAD frequency: 0.00010  dbSNP: rs543844967
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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 RCV002126249 SCV002451242 likely benign Neu-Laxova syndrome 2 2021-03-25 criteria provided, single submitter clinical testing

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