ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)

dbSNP: rs1602937895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985094 SCV001133058 likely pathogenic Child syndrome 2019-09-26 no assertion criteria provided clinical testing

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