ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.*103C>T

gnomAD frequency: 0.00029  dbSNP: rs368850176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328122 SCV000396409 uncertain significance Brody myopathy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694262 SCV005194301 uncertain significance not provided criteria provided, single submitter not provided

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