ClinVar Miner

Submissions for variant NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=)

gnomAD frequency: 0.01216  dbSNP: rs34910192
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000971519 SCV001119173 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489415 SCV002795981 benign Hyperglycinuria; Iminoglycinuria 2021-07-20 criteria provided, single submitter clinical testing

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