ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.966T>C (p.Tyr322=)

gnomAD frequency: 0.00002  dbSNP: rs750851227
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483500 SCV001687894 likely benign Citrullinemia 2024-02-13 criteria provided, single submitter clinical testing

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