ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Heon Lab,The Hospital for Sick Children RCV001261546 SCV001244845 likely pathogenic Retinitis pigmentosa; Hereditary sensory and autonomic neuropathy 2020-04-23 criteria provided, single submitter research The reported mutation in trans with NM_014053.3: c.3G>T; p.(Met1?) causes retinitis pigmentosa with hereditary sensory autonomic neuropathy in autosomal recessive mode.

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