ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)

gnomAD frequency: 0.00841  dbSNP: rs369149111
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259894 SCV000361210 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259894 SCV000483048 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576298 SCV000677232 benign CARASIL syndrome 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001511034 SCV001718209 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001511034 SCV001894856 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001511034 SCV001797926 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001795917 SCV001806796 benign not specified no assertion criteria provided clinical testing

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