ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.869+9A>G

gnomAD frequency: 0.00003  dbSNP: rs368990190
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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 RCV001472860 SCV001677000 likely benign Neu-Laxova syndrome 2 2021-04-11 criteria provided, single submitter clinical testing

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