ClinVar Miner

Submissions for variant NM_181776.3(SLC36A2):c.766T>C (p.Leu256=)

gnomAD frequency: 0.00008  dbSNP: rs780286885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000911781 SCV001056860 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502740 SCV002805277 likely benign Hyperglycinuria; Iminoglycinuria 2022-04-22 criteria provided, single submitter clinical testing

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