ClinVar Miner

Submissions for variant NM_004483.5(GCSH):c.53C>T (p.Ala18Val)

gnomAD frequency: 0.00326  dbSNP: rs540997326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554714 SCV000636439 benign Non-ketotic hyperglycinemia 2022-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000554714 SCV000895043 uncertain significance Non-ketotic hyperglycinemia 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858103 SCV001151023 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing

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