ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu)

dbSNP: rs2145377026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563875 SCV001786922 uncertain significance Junctional epidermolysis bullosa, non-Herlitz type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563876 SCV001786923 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563877 SCV001786924 uncertain significance Laryngo-onycho-cutaneous syndrome 2021-07-14 criteria provided, single submitter clinical testing

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