ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.175-7C>T

gnomAD frequency: 0.00008  dbSNP: rs374694909
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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 RCV000517113 SCV000613682 uncertain significance not specified 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588640 SCV004335633 likely benign Spastic paraplegia 2022-11-01 criteria provided, single submitter clinical testing

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