ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.778-20G>A

gnomAD frequency: 0.04347  dbSNP: rs74159166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516140 SCV001724368 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001516140 SCV001914240 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516140 SCV005322932 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001516140 SCV002035297 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001516140 SCV002036404 likely benign not provided no assertion criteria provided clinical testing

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