ClinVar Miner

Submissions for variant NM_015932.6(POMP):c.101+9G>A

gnomAD frequency: 0.00248  dbSNP: rs116855705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518672 SCV001727413 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501807 SCV002798420 likely benign Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome; Proteasome-associated autoinflammatory syndrome 2 2021-08-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518672 SCV005235906 benign not provided criteria provided, single submitter not provided

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