ClinVar Miner

Submissions for variant NM_024669.3(ANKRD55):c.835G>A (p.Glu279Lys)

gnomAD frequency: 0.00850  dbSNP: rs146546015
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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 RCV000967746 SCV001115164 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967746 SCV005301102 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV000967746 SCV005329696 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing ANKRD55: BS2

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