ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe)

dbSNP: rs184516277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848455 SCV002104747 uncertain significance Hereditary spastic paraplegia 2018-09-01 criteria provided, single submitter clinical testing

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