ClinVar Miner

Submissions for variant NM_016580.4(PCDH12):c.2176T>C (p.Leu726=)

gnomAD frequency: 0.67076  dbSNP: rs164073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518185 SCV001726836 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001518185 SCV001884539 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788561 SCV002029411 benign Diencephalic-mesencephalic junction dysplasia syndrome 1 2021-09-05 criteria provided, single submitter clinical testing

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