ClinVar Miner

Submissions for variant NM_001843.4(CNTN1):c.771A>G (p.Gln257=)

dbSNP: rs2136919555
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001961140 SCV002246840 likely benign Compton-North congenital myopathy 2024-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694053 SCV005191767 uncertain significance not provided criteria provided, single submitter not provided

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