ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.1038C>T (p.Ala346=)

gnomAD frequency: 0.00162  dbSNP: rs118109949
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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 RCV000887767 SCV001031347 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501439 SCV002800251 likely benign Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000887767 SCV005312159 benign not provided criteria provided, single submitter not provided

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