ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.782dup (p.His261fs)

dbSNP: rs2144606157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542493 SCV001760380 likely pathogenic Hereditary spastic paraplegia 35 no assertion criteria provided clinical testing

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