ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.640C>T (p.His214Tyr)

dbSNP: rs1462821448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003286970 SCV003967381 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.640C>T (p.H214Y) alteration is located in exon 6 (coding exon 6) of the EDARADD gene. This alteration results from a C to T substitution at nucleotide position 640, causing the histidine (H) at amino acid position 214 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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