ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)

gnomAD frequency: 0.00003  dbSNP: rs759248549
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000935489 SCV001081238 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815490 SCV002064094 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing

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