ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)

gnomAD frequency: 0.00436  dbSNP: rs41279971
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001864 SCV000655815 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001568276 SCV001159581 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001568276 SCV001792118 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001001864 SCV002554880 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270669 SCV002555319 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001568276 SCV004154872 benign not provided 2024-03-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7, BS1, BS2

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