ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.777G>A (p.Pro259=)

gnomAD frequency: 0.00004  dbSNP: rs568868210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288938 SCV001476401 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400632 SCV001602439 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-11-14 criteria provided, single submitter clinical testing

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