ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr)

gnomAD frequency: 0.00008  dbSNP: rs370701984
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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 RCV000868021 SCV001009304 benign Charcot-Marie-Tooth disease type 4 2023-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884764 SCV004699799 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MTMR2: PP3, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003884764 SCV005230767 benign not provided criteria provided, single submitter not provided

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