ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.1134C>T (p.Asn378=)

gnomAD frequency: 0.00094  dbSNP: rs140715869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723379 SCV000226195 uncertain significance not provided 2014-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000174824 SCV000526091 likely benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001507123 SCV001014711 benign Citrullinemia 2025-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084361 SCV001457315 likely benign Citrullinemia type I 2020-04-13 no assertion criteria provided clinical testing

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