ClinVar Miner

Submissions for variant NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)

gnomAD frequency: 0.00058  dbSNP: rs139382018
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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 RCV000005762 SCV000649983 likely benign Neuronopathy, distal hereditary motor, type 2C 2024-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091910 SCV001248189 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
OMIM RCV000005762 SCV000025944 pathogenic Neuronopathy, distal hereditary motor, type 2C 2010-02-09 no assertion criteria provided literature only

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