ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met)

dbSNP: rs77331026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714790 SCV000845522 uncertain significance Junctional epidermolysis bullosa, non-Herlitz type 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000966050 SCV001113337 likely benign not provided 2022-05-27 criteria provided, single submitter clinical testing

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