ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.300C>T (p.Asp100=)

gnomAD frequency: 0.00006  dbSNP: rs779526489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435964 SCV000526661 likely benign not specified 2017-07-31 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 RCV000918695 SCV001064014 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506049 SCV002802428 likely benign Alacrima, achalasia, and intellectual disability syndrome 2022-01-21 criteria provided, single submitter clinical testing

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