ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)

gnomAD frequency: 0.00011  dbSNP: rs56379428
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612336 SCV000728227 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000640451 SCV000762042 benign Telangiectasia, hereditary hemorrhagic, type 2 2024-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000640451 SCV002524600 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002385943 SCV002688841 benign Cardiovascular phenotype 2022-02-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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