ClinVar Miner

Submissions for variant NM_024666.5(AAGAB):c.536-95G>A

gnomAD frequency: 0.28500  dbSNP: rs28418884
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676652 SCV001892207 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243390 SCV002514401 benign Palmoplantar keratoderma, punctate type 1A 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676652 SCV005293060 benign not provided criteria provided, single submitter not provided

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