ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.108G>T (p.Gly36=)

dbSNP: rs2293870
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313539 SCV000361214 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313539 SCV000483052 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000020491 SCV000677231 benign CARASIL syndrome 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001522701 SCV001732292 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001522701 SCV001837903 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26310622, 18164066, 23478260)
GeneReviews RCV000020491 SCV000040931 not provided CARASIL syndrome no assertion provided literature only

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