ClinVar Miner

Submissions for variant NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)

gnomAD frequency: 0.00566  dbSNP: rs78892546
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465105 SCV000557817 benign Primary ciliary dyskinesia 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001662437 SCV001872420 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506148 SCV002806081 benign Primary ciliary dyskinesia 21 2021-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001662437 SCV005242005 benign not provided criteria provided, single submitter not provided

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