ClinVar Miner

Submissions for variant NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003159267 SCV003852666 uncertain significance Autosomal recessive osteopetrosis 1 2023-03-01 no assertion criteria provided clinical testing

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