ClinVar Miner

Submissions for variant NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs)

dbSNP: rs1596675237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000855720 SCV000998889 likely pathogenic Esophageal and colonic dysmotility 2019-07-01 no assertion criteria provided research
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000855721 SCV000998890 likely benign Aortic aneurysm, familial thoracic 4 2019-07-01 flagged submission research
OMIM RCV001449894 SCV001653290 pathogenic Visceral myopathy 2 2021-05-28 no assertion criteria provided literature only

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