ClinVar Miner

Submissions for variant NM_005255.4(GAK):c.3060G>A (p.Glu1020=)

gnomAD frequency: 0.00515  dbSNP: rs142955360
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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 RCV000960247 SCV001107206 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960247 SCV004151804 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing GAK: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000960247 SCV005305894 benign not provided criteria provided, single submitter not provided

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