ClinVar Miner

Submissions for variant NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr)

gnomAD frequency: 0.00029  dbSNP: rs200123093
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935920 SCV001081676 benign not provided 2023-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502866 SCV002808392 likely benign Hyperglycinuria; Iminoglycinuria 2021-11-16 criteria provided, single submitter clinical testing

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