ClinVar Miner

Submissions for variant NM_005491.5(MAMLD1):c.270T>C (p.Asp90=)

dbSNP: rs149710130
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532214 SCV001747667 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing MAMLD1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001532214 SCV004464523 benign not provided 2023-12-15 criteria provided, single submitter clinical testing

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