ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.700+8C>T

gnomAD frequency: 0.00143  dbSNP: rs185384719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088313 SCV001001561 benign Spastic paraplegia 2023-10-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000861290 SCV001144230 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849138 SCV002104765 likely benign Hereditary spastic paraplegia 2017-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938211 SCV004750592 likely benign HSPD1-related disorder 2019-06-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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