ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn)

dbSNP: rs1800956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880396 SCV002125358 likely benign Hereditary hemorrhagic telangiectasia 2024-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040426 SCV005679908 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2024-02-06 criteria provided, single submitter clinical testing

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