ClinVar Miner

Submissions for variant NM_024854.5(PYROXD1):c.751-36T>C

gnomAD frequency: 0.49486  dbSNP: rs7309539
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666976 SCV001885725 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796671 SCV002033368 benign Myofibrillar myopathy 8 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666976 SCV005236272 benign not provided criteria provided, single submitter not provided

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