ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2583C>T (p.Ser861=)

gnomAD frequency: 0.00091  dbSNP: rs140142437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652699 SCV000774570 benign Charcot-Marie-Tooth disease axonal type 2Z 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV003156278 SCV003845651 benign not provided 2021-08-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003953199 SCV004777167 likely benign MORC2-related disorder 2019-08-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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