ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1137C>T (p.Ile379=)

gnomAD frequency: 0.00011  dbSNP: rs749315456
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346837 SCV000340996 uncertain significance not provided 2016-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000346837 SCV002377112 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing

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