ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)

dbSNP: rs2138792701
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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 RCV001848358 SCV002106293 uncertain significance Hereditary spastic paraplegia 2021-05-18 criteria provided, single submitter clinical testing

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