ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.102C>T (p.Ala34=)

gnomAD frequency: 0.22934  dbSNP: rs1049331
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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 RCV000334821 SCV000361212 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334821 SCV000483050 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000020489 SCV000677229 benign CARASIL syndrome 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522700 SCV001732291 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522700 SCV001944698 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23478260, 18164066, 26310622)
Breakthrough Genomics, Breakthrough Genomics RCV001522700 SCV005220810 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000020489 SCV000040929 not provided CARASIL syndrome no assertion provided literature only

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