ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2190C>T (p.Ser730=)

gnomAD frequency: 0.00005  dbSNP: rs376896083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002149518 SCV002412615 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-06-25 criteria provided, single submitter clinical testing

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