ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.237G>A (p.Arg79=)

gnomAD frequency: 0.02453  dbSNP: rs114331262
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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 RCV001727911 SCV002470215 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001727911 SCV005235308 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579845 SCV001808691 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727911 SCV001973414 likely benign not provided no assertion criteria provided clinical testing

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