ClinVar Miner

Submissions for variant NM_001374623.1(PNPLA1):c.776-35G>A

gnomAD frequency: 0.39147  dbSNP: rs10947600
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710815 SCV001938457 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789541 SCV002031524 benign Autosomal recessive congenital ichthyosis 10 2021-10-25 criteria provided, single submitter clinical testing

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