ClinVar Miner

Submissions for variant NM_002204.4(ITGA3):c.2070+1G>A (rs797045048)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191096 SCV000245495 pathogenic Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 2014-11-04 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a missense variant [T658R] in a 20-year-old male with cleft lip, short stature, hypothyroidism, small right kidney, polycystic kidney disease, chronic renal insufficiency, abnormal findings on lung imaging, hyperlipidemia and skin anomalies (rash, lichen planus, discolored teeth)

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