ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1038C>T (p.Ala346=)

gnomAD frequency: 0.00001  dbSNP: rs199527803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459994 SCV001663854 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704319 SCV005210323 likely benign not provided criteria provided, single submitter not provided

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