ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.576G>A (p.Lys192=)

gnomAD frequency: 0.00717  dbSNP: rs115468878
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078013 SCV000109851 benign not specified 2013-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001535399 SCV000512104 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634857 SCV000756210 benign Argininosuccinate lyase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001535399 SCV005270065 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000634857 SCV002076020 benign Argininosuccinate lyase deficiency 2019-12-02 no assertion criteria provided clinical testing

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