ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) (rs761315649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927715 SCV001073304 likely benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001448818 SCV001651921 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-07-14 criteria provided, single submitter clinical testing

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