ClinVar Miner

Submissions for variant NM_005515.4(MNX1):c.375CGC[8] (p.Ala134del)

dbSNP: rs548755417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000722932 SCV002452949 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000722932 SCV005074112 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MNX1: BP3
Gharavi Laboratory, Columbia University RCV000722932 SCV000854063 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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