ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.549C>T (p.Leu183=)

gnomAD frequency: 0.00001  dbSNP: rs767690383
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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 RCV001848435 SCV002104681 uncertain significance Hereditary spastic paraplegia 2017-06-22 criteria provided, single submitter clinical testing

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