ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)

gnomAD frequency: 0.00035  dbSNP: rs570393243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000979 SCV001158081 likely benign Charcot-Marie-Tooth disease type 4B3 2018-10-02 criteria provided, single submitter clinical testing
Invitae RCV001869424 SCV002245588 likely benign not provided 2023-08-20 criteria provided, single submitter clinical testing

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