ClinVar Miner

Submissions for variant NM_003118.4(SPARC):c.120+5G>A

gnomAD frequency: 0.00166  dbSNP: rs199932910
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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 RCV000900537 SCV001044861 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000900537 SCV005226608 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000900537 SCV005411921 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003950557 SCV004759297 likely benign SPARC-related disorder 2023-04-19 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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